Canonical Allele Identifier: CA393374030
Gene: ALPK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840274T>C , CM000677.2:g.84840274T>C GRCh38
NC_000015.9:g.85383505T>C , CM000677.1:g.85383505T>C GRCh37
NC_000015.8:g.83184509T>C NCBI36
NG_054748.1:g.28644T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258888.6:c.995T>C MANE Select ENSP00000258888.6:p.Leu332Ser
ENST00000258888.5:c.1601T>C ENSP00000258888.5:p.Leu534Ser
NM_020778.4:c.1601T>C NP_065829.3:p.Leu534Ser
NM_020778.5:c.995T>C MANE Select NP_065829.4:p.Leu332Ser